ClinVar Miner

Submissions for variant NM_000106.5(CYP2D6):c.454delT (p.Trp152Glyfs) (rs5030655)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734613 SCV000862767 other not provided 2018-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000734613 SCV000977563 likely benign not provided 2018-03-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Medical Genetics Summaries RCV001030443 SCV001193761 drug response Deutetrabenazine response 2019-05-01 criteria provided, single submitter curation Individuals who do not have any fully functional alleles are either intermediate metabolizers (one decreased function and one no function allele, e.g., *6/*41) or poor metabolizers (2 no function alleles, e.g., *6/*6). Therapeutic recommendations from professional societies state that the maximum dose of deutetrabenazine should not exceed 36 mg per day in individuals with 2 decreased function alleles (CYP2D6 poor metabolizers) to avoid abnormally high plasma levels due to reduced metabolic clearance.
Medical Genetics Summaries RCV001093716 SCV001250911 drug response Tamoxifen response 2019-05-01 criteria provided, single submitter curation Individuals who do not have any fully functional alleles are either intermediate metabolizers (one decreased function and one no function allele, e.g., *4/*41) or poor metabolizers (2 no function alleles, e.g., *4/*4). Currently, there is no consensus on therapeutic guidelines for tamoxifen based on CYP2D6 genotype. Professional societies suggest that poor metabolizers may benefit less from tamoxifen therapy because they have lower concentrations of tamoxifen's major active metabolite, endoxifin, compared with normal metabolizers.
OMIM RCV000018387 SCV000038669 drug response Debrisoquine, poor metabolism of 1994-06-01 no assertion criteria provided literature only

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